2024
Raphe and ventrolateral medulla proteomics in sudden unexplained death in childhood with febrile seizure history
Leitner D, William C, Faustin A, Kanshin E, Snuderl M, McGuone D, Wisniewski T, Ueberheide B, Gould L, Devinsky O. Raphe and ventrolateral medulla proteomics in sudden unexplained death in childhood with febrile seizure history. Acta Neuropathologica 2024, 148: 76. PMID: 39607506, PMCID: PMC11604820, DOI: 10.1007/s00401-024-02832-9.Peer-Reviewed Original ResearchConceptsMedullary rapheSudden infant death syndromeVentrolateral medullaFebrile seizuresSudden unexplained deathWeighted gene correlation network analysisDorsal rapheUnexplained deathMidbrain dorsal rapheSUDC casesSignaling pathwayEukaryotic translation initiationGene Ontology biological processesSynaptic vesicle cycleLabel-free quantitative mass spectrometryEukaryotic translation elongationSudden unexpected deathGene correlation network analysisDifferential expression analysisDecreased cellular respirationFebrile seizure historyQuantitative mass spectrometryAutonomic dysfunctionCorrelation network analysisCoagulation system
2023
Clinical and genomic differences in supratentorial versus infratentorial NF2 mutant meningiomas.
Tabor J, O'Brien J, Vasandani S, Vetsa S, Lei H, Jalal M, Marianayagam N, Jin L, Millares Chavez M, Haynes J, Dincer A, Yalcin K, Aguilera S, Omay S, Mishra-Gorur K, McGuone D, Morales-Valero S, Fulbright R, Gunel M, Erson-Omay E, Moliterno J. Clinical and genomic differences in supratentorial versus infratentorial NF2 mutant meningiomas. Journal Of Neurosurgery 2023, 139: 1648-1656. PMID: 37243548, DOI: 10.3171/2023.4.jns222929.Peer-Reviewed Original ResearchConceptsSubtotal resectionSupratentorial tumorsElevated Ki-67High-risk featuresProgression-free survivalChromosome 1p deletionInfratentorial counterpartsInfratentorial tumorsPostoperative managementSomatic driver mutationsCerebral convexityGrade IIInfratentorial meningiomasKi-67Posterior fossaLoss of heterozygosityMeningiomasResectionTumorsWhole-exome sequencing dataDriver mutationsHigh gradeSignificant differencesExome sequencing dataSporadic meningiomasA systematic review and individual participant data meta-analysis of gonadal steroid hormone receptors in meningioma.
Miyagishima D, Sundaresan V, Gutierrez A, Barak T, Yeung J, Moliterno J, McGuone D, Claus E, Günel M. A systematic review and individual participant data meta-analysis of gonadal steroid hormone receptors in meningioma. Journal Of Neurosurgery 2023, 139: 1638-1647. PMID: 37243565, PMCID: PMC10226381, DOI: 10.3171/2023.3.jns221838.Peer-Reviewed Original ResearchConceptsIndividual participant dataHR statusProgesterone receptorAndrogen receptorEstrogen receptorHormone receptorsFemale patientsParticipant dataSystematic reviewGonadal steroid hormone receptorsRisk of biasGonadal steroid hormonesPubMed literature reviewProper patient stratificationSkull base locationSteroid hormone receptorsHormonal therapyER expressionUnduplicated articlesFemale sexGrade IIndependent associationPatient stratificationConvexity locationStudy heterogeneity
2022
Genomic profiling of sporadic multiple meningiomas
Erson-Omay EZ, Vetsa S, Vasandani S, Barak T, Nadar A, Marianayagam NJ, Yalcin K, Miyagishima D, Aguilera SM, Robert S, Mishra-Gorur K, Fulbright RK, McGuone D, Günel M, Moliterno J. Genomic profiling of sporadic multiple meningiomas. BMC Medical Genomics 2022, 15: 112. PMID: 35568945, PMCID: PMC9107270, DOI: 10.1186/s12920-022-01258-0.Peer-Reviewed Original ResearchConceptsGrade IComprehensive next-generation sequencingMonoclonal originClinical management strategiesPrior radiation exposureRelevant clinical dataMajority of tumorsInter-tumoral heterogeneitySurgical resectionClinical behaviorGrade IIClinical dataFamily historyMultiple meningiomasGrade I.Same patientMonoclonal expansionPatientsClonal formationBilateral meningiomasMeningiomasIndividual tumorsTumorsPatient behavesGenomic profilingProteomic differences in hippocampus and cortex of sudden unexplained death in childhood
Leitner DF, William C, Faustin A, Askenazi M, Kanshin E, Snuderl M, McGuone D, Wisniewski T, Ueberheide B, Gould L, Devinsky O. Proteomic differences in hippocampus and cortex of sudden unexplained death in childhood. Acta Neuropathologica 2022, 143: 585-599. PMID: 35333953, PMCID: PMC8953962, DOI: 10.1007/s00401-022-02414-7.Peer-Reviewed Original ResearchConceptsSudden unexplained deathDentate gyrusFrontal cortexClinical historyCA1-3Unexplained deathBrain regionsSudden unexpected deathHippocampal dentate gyrusFebrile seizure historyAcute phase responseCause of deathYears of ageMechanism of deathCircumstances of deathSUDC casesMolecular signaling pathwaysClinical featuresSeizure historyPathological featuresMultiple etiologiesCornu ammonisUnexpected deathPreventive strategiesAncillary testingMononeuritis multiplex as a rare and severe neurological complication of immune checkpoint inhibitors: a case report
Abdelhakim S, Klapholz JD, Roy B, Weiss SA, McGuone D, Corbin ZA. Mononeuritis multiplex as a rare and severe neurological complication of immune checkpoint inhibitors: a case report. Journal Of Medical Case Reports 2022, 16: 81. PMID: 35197122, PMCID: PMC8867751, DOI: 10.1186/s13256-022-03290-1.Peer-Reviewed Original ResearchConceptsImmune checkpoint inhibitorsMononeuritis multiplexCheckpoint inhibitorsCell death protein 1/Cytotoxic T-lymphocyte antigen-4Death ligand 1 (PD-L1) axisDeath protein 1/Immune checkpoint inhibitor therapyT-lymphocyte antigen-4Progressive leg weaknessCheckpoint inhibitor therapyProgressive neurologic dysfunctionSevere neurological complicationsAutoimmune peripheral neuropathyNon-Hispanic white femalesSevere side effectsLigand-1 axisChronic steroidsCombination ipilimumabConclusionsIncreased awarenessIntravenous immunoglobulinNeurological complicationsParaneoplastic syndromeAggressive treatmentInhibitor therapyNeuropathology of Chiari Malformation II with Chromosome X Alterations: An Autopsy Study in a 17-Month-Old and Review of Literature
Wang X, Habet V, Aboian M, Leelatian N, McGuone D, Morotti R, Kandil S, Darbinyan A. Neuropathology of Chiari Malformation II with Chromosome X Alterations: An Autopsy Study in a 17-Month-Old and Review of Literature. Journal Of Neuropathology & Experimental Neurology 2022, 81: 296-298. PMID: 35139536, DOI: 10.1093/jnen/nlab137.Peer-Reviewed Original Research
2021
Surgical strategies for older patients with glioblastoma
Barak T, Vetsa S, Nadar A, Jin L, Gupte TP, Fomchenko EI, Miyagishima DF, Yalcin K, Vasandani S, Gorelick E, Zhao AY, Antonios J, Theriault BC, Lifton N, Marianayagam N, Omay B, Omay ZE, Huttner A, McGuone D, Blondin NA, Corbin Z, Fulbright RK, Moliterno J. Surgical strategies for older patients with glioblastoma. Journal Of Neuro-Oncology 2021, 155: 255-264. PMID: 34626296, PMCID: PMC8651607, DOI: 10.1007/s11060-021-03862-z.Peer-Reviewed Original ResearchConceptsKarnofsky performance scoreLength of surgeryOlder patientsOverall survivalPostoperative complicationsSurgical resectionSurgical strategyLow preoperative KPS scorePoor Karnofsky performance scoreLow Karnofsky performance scoreYale-New Haven HospitalPostoperative adjuvant treatmentPreoperative KPS scoreAdjuvant treatment regimensExtent of resectionNew Haven HospitalUse of ioMRIAdjuvant treatmentHospital stayKPS scoreMethodsClinical dataConsecutive patientsPrognostic factorsTreatment regimensExperienced handsCoronavirus Disease 2019 (COVID-19) Coronary Vascular Thrombosis Correlation with Neutrophil but Not Endothelial Activation
Johnson JE, McGuone D, Xu ML, Jane-Wit D, Mitchell RN, Libby P, Pober JS. Coronavirus Disease 2019 (COVID-19) Coronary Vascular Thrombosis Correlation with Neutrophil but Not Endothelial Activation. American Journal Of Pathology 2021, 192: 112-120. PMID: 34599881, PMCID: PMC8479934, DOI: 10.1016/j.ajpath.2021.09.004.Peer-Reviewed Original ResearchConceptsVascular cell adhesion molecule-1Intracellular adhesion molecule-1Adhesion molecule-1Von Willebrand factorEndothelial activationMolecule-1Severe coronavirus disease 2019Neutrophil extracellular trap formationCell adhesion molecule-1COVID-19 cohortCOVID-19 patientsNeutrophil-platelet aggregatesCoronavirus disease 2019Extracellular trap formationCOVID-19Transcription factor p65Extensive thrombosisLymphocytic infiltrationMyocardial injuryThrombotic diathesisInflammatory activationNeutrophil activationCardiovascular diseaseDisease 2019Autopsy tissueType of bony involvement predicts genomic subgroup in sphenoid wing meningiomas
Jin L, Youngblood MW, Gupte TP, Vetsa S, Nadar A, Barak T, Yalcin K, Aguilera SM, Mishra-Gorur K, Blondin NA, Gorelick E, Omay SB, Pointdujour-Lim R, Judson BL, Alperovich M, Aboian MS, McGuone D, Gunel M, Erson-Omay Z, Fulbright RK, Moliterno J. Type of bony involvement predicts genomic subgroup in sphenoid wing meningiomas. Journal Of Neuro-Oncology 2021, 154: 237-246. PMID: 34350560, DOI: 10.1007/s11060-021-03819-2.Peer-Reviewed Original ResearchConceptsSpheno-orbital meningiomasSphenoid wing meningiomaBony involvementTRAF7 mutationsGenomic subgroupsPre-operative clinical featuresTumor invasionYale-New Haven HospitalAdditional clinical variablesSubset of tumorsPre-operative predictionWhole-exome sequencingBone involvementBone invasionClinical featuresClinical variablesGrade IIMolecular subtypesRecurrence patternsClinical implicationsHyperostosisExome sequencingMeningiomasTumorsGenomic driversFour Human Cases of Eastern Equine Encephalitis in Connecticut, USA, during a Larger Regional Outbreak, 2019 - Volume 27, Number 8—August 2021 - Emerging Infectious Diseases journal - CDC
Brown SC, Cormier J, Tuan J, Lier AJ, McGuone D, Armstrong PM, Kaddouh F, Parikh S, Landry ML, Gobeske KT. Four Human Cases of Eastern Equine Encephalitis in Connecticut, USA, during a Larger Regional Outbreak, 2019 - Volume 27, Number 8—August 2021 - Emerging Infectious Diseases journal - CDC. Emerging Infectious Diseases 2021, 27: 2042-2051. PMID: 34289334, PMCID: PMC8314835, DOI: 10.3201/eid2708.203730.Peer-Reviewed Original ResearchBlinded review of hippocampal neuropathology in sudden unexplained death in childhood reveals inconsistent observations and similarities to explained paediatric deaths
Leitner DF, McGuone D, William C, Faustin A, Askenazi M, Snuderl M, Guzzetta M, Jarrell HS, Maloney K, Reichard R, Smith C, Weedn V, Wisniewski T, Gould L, Devinsky O. Blinded review of hippocampal neuropathology in sudden unexplained death in childhood reveals inconsistent observations and similarities to explained paediatric deaths. Neuropathology And Applied Neurobiology 2021, 48: e12746. PMID: 34164845, PMCID: PMC8777468, DOI: 10.1111/nan.12746.Peer-Reviewed Original ResearchConceptsCause of deathSudden unexplained deathHippocampal findingsUnexplained deathBlinded reviewersFebrile seizure historyGranule cell lossForensic pathologistsBoard-certified forensic pathologistsHippocampal histologyHippocampal maldevelopmentFebrile seizuresHippocampal neuropathologyHippocampal sectionsPyramidal neuronsSeizure historyPediatric deathsChildhood casesSudden deathImmunohistological markersBlinded reviewNormal rangeCell lossLarger studySUDCSomatic NF1 mutations in pituitary adenomas: Report of two cases
Hong CS, Kundishora AJ, Elsamadicy AA, Koo AB, McGuone D, Inzucchi SE, Omay SB, Erson-Omay EZ. Somatic NF1 mutations in pituitary adenomas: Report of two cases. Cancer Genetics 2021, 256: 26-30. PMID: 33862521, DOI: 10.1016/j.cancergen.2021.03.004.Peer-Reviewed Original ResearchSeizure‐related deaths in children: The expanding spectrum
Harowitz J, Crandall L, McGuone D, Devinsky O. Seizure‐related deaths in children: The expanding spectrum. Epilepsia 2021, 62: 570-582. PMID: 33586153, PMCID: PMC7986159, DOI: 10.1111/epi.16833.Peer-Reviewed Original ResearchConceptsSeizure-related deathSudden unexpected infant deathSudden unexplained deathUnexpected infant deathEpileptic factorsMale predominanceNonfebrile seizuresHippocampal abnormalitiesFetal lossProne positionUnexplained deathUnexpected deathFamily historyNeuronal excitabilityInfant deathUnwitnessed deathsEpidemiological studiesEpilepsy shareEpilepsy diagnosisDeathGenetic featuresSeizuresChildrenPotential causesFebrile
2020
Autopsy Services and Emergency Preparedness of a Tertiary Academic Hospital Mortuary for the COVID-19 Public Health Emergency: The Yale Plan
McGuone D, Sinard J, Gill JR, Masters A, Liu C, Morotti R, Parkash V. Autopsy Services and Emergency Preparedness of a Tertiary Academic Hospital Mortuary for the COVID-19 Public Health Emergency: The Yale Plan. Advances In Anatomic Pathology 2020, 27: 355-362. PMID: 32649315, DOI: 10.1097/pap.0000000000000274.Peer-Reviewed Original ResearchConceptsAcute respiratory syndrome coronavirus 2 pandemicSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemicHealth care worker safetyCoronavirus 2 pandemicCOVID-19 public health emergencyHigh-quality patient carePublic health emergencyCorona Virus DiseaseEarly response phaseInfection controlPatient careTissue retrievalAutopsy serviceMortuary servicesHospital mortuaryAutopsiesHealth emergencyPatient flowNovel diseaseVirus diseasePlateau phaseDiseasePandemicRecent memoryEmergency preparednessLarge-scale second-hit AIP deletion causing a pediatric growth hormone-secreting pituitary adenoma: Case report and review of literature
Gummadavelli A, Dinauer C, McGuone D, Vining EM, Erson-Omay EZ, Omay SB. Large-scale second-hit AIP deletion causing a pediatric growth hormone-secreting pituitary adenoma: Case report and review of literature. Journal Of Clinical Neuroscience 2020, 78: 420-422. PMID: 32336638, DOI: 10.1016/j.jocn.2020.04.103.Peer-Reviewed Original ResearchNeuropathologic Changes in Sudden Unexplained Death in Childhood
McGuone D, Leitner D, William C, Faustin A, Leelatian N, Reichard R, Shepherd TM, Snuderl M, Crandall L, Wisniewski T, Devinsky O. Neuropathologic Changes in Sudden Unexplained Death in Childhood. Journal Of Neuropathology & Experimental Neurology 2020, 79: 336-346. PMID: 31995186, PMCID: PMC7036658, DOI: 10.1093/jnen/nlz136.Peer-Reviewed Original ResearchConceptsSudden unexplained deathHippocampal abnormalitiesUnexplained deathHippocampal findingsNumber of seizuresBoard-certified neuropathologistsCause of deathComprehensive case investigationMultiple chromosomal aberrationsSeizure pathogenesisSUDC casesFebrile seizuresHippocampal alterationsMedian ageHistological reviewNeuropathologic changesNeuropathologic investigationDentate gyrusProne positionCommon findingAncillary testingAutopsy dataMolecular testingApparent sleepBrain samples
2019
Polysomy is associated with poor outcome in 1p/19q codeleted oligodendroglial tumors
Chen H, Thomas C, Munoz FA, Alexandrescu S, Horbinski CM, Olar A, McGuone D, Camelo-Piragua S, Wang L, Pentsova E, Phillips J, Aldape K, Chen W, Iafrate AJ, S AS, Zagzag D, Golfinos JG, Placantonakis DG, Rosenblum M, Ohman-Strickland P, Hameed M, Snuderl M. Polysomy is associated with poor outcome in 1p/19q codeleted oligodendroglial tumors. Neuro-Oncology 2019, 21: 1164-1174. PMID: 31140557, PMCID: PMC7571489, DOI: 10.1093/neuonc/noz098.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAneuploidyBrain NeoplasmsChemotherapy, AdjuvantChildChromosomal InstabilityChromosome DeletionChromosomes, Human, Pair 1Chromosomes, Human, Pair 19FemaleHumansIn Situ Hybridization, FluorescenceIsocitrate DehydrogenaseMaleMiddle AgedNeoadjuvant TherapyNeurosurgical ProceduresOligodendrogliomaPrognosisProgression-Free SurvivalRadiotherapy, AdjuvantSurvival RateYoung AdultConceptsProgression-free survivalOverall survivalOligodendroglial tumorsPrognostic significanceBetter progression-free survivalLonger progression-free survivalPolysomic cellsCodeletion of 1p/19qPresence of polysomyEarly recurrenceShorter survivalPoor outcomeEarly progressionPatientsTumorsSurvivalPolysomySitu hybridizationCodeletionChromosomal instabilityCellsGroupPrior studiesStatusRecurrence
2018
Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma
Gopal RK, Calvo SE, Shih AR, Chaves FL, McGuone D, Mick E, Pierce KA, Li Y, Garofalo A, Van Allen EM, Clish CB, Oliva E, Mootha VK. Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2018, 115: e6283-e6290. PMID: 29915083, PMCID: PMC6142220, DOI: 10.1073/pnas.1711888115.Peer-Reviewed Original Research
2017
Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis
Lam JD, Oh DJ, Wong LL, Amarnani D, Park-Windhol C, Sanchez AV, Cardona-Velez J, McGuone D, Stemmer-Rachamimov AO, Eliott D, Bielenberg DR, van Zyl T, Shen L, Gai X, D'Amore PA, Kim LA, Arboleda-Velasquez JF. Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis. Diabetes 2017, 66: db161035. PMID: 28400392, PMCID: PMC5482092, DOI: 10.2337/db16-1035.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overAnimalsCell MovementCell ProliferationCore Binding Factor Alpha 2 SubunitDiabetes Mellitus, Type 1Diabetes Mellitus, Type 2Diabetic RetinopathyDisease Models, AnimalEndothelial CellsFemaleGlucoseHumansImmunohistochemistryMaleMiceMiddle AgedOxygenRetinaRetinal NeovascularizationRNA, MessengerConceptsAberrant retinal angiogenesisHuman retinal microvascular endothelial cellsProliferative diabetic retinopathyOxygen-induced retinopathyFibrovascular membranesRetinal angiogenesisEndothelial cellsRetinal microvascular endothelial cellsType 2 diabetesRetina of miceMicrovascular endothelial cellsVascular endothelial cellsNeovascular tuftsDiabetic retinopathyTranscription factor 1Common causeRUNX1 inhibitionImmunohistochemical stainingAdult populationHigh glucoseType 1RetinopathyProtein expressionTube formationFactor 1